A case report of prenatally diagnosed tetrasomy 18p.
10.5468/ogs.2013.56.3.190
- Author:
Phill Seung JUNG
1
;
Hye Sung WON
;
In Ji CHO
;
Min Kyung HYUN
;
Jae Yoon SHIM
;
Pil Ryang LEE
;
Ahm KIM
Author Information
1. Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. hswon@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Isochromosome 18p;
Prenatal diagnosis;
Tetrasomy 18p
- MeSH:
Anemia;
Aneuploidy;
Anus, Imperforate;
Arm;
Cardiomegaly;
Chromosomes, Human, Pair 18;
Coat Protein Complex I;
Female;
Fetal Growth Retardation;
Fluorescence;
Heart Diseases;
Humans;
In Situ Hybridization;
Isochromosomes;
Karyotyping;
Korea;
Live Birth;
Meiosis;
Pregnancy;
Prenatal Diagnosis;
Prevalence;
Tetrasomy;
Ultrasonography, Prenatal
- From:Obstetrics & Gynecology Science
2013;56(3):190-193
- CountryRepublic of Korea
- Language:English
-
Abstract:
Tetrasomy 18p, one of the most commonly observed isochromosomes, consists of two copies of the p arms on chromosome 18[i(18p)]. It is known as a de novo occurrence of non-disjunction or centromeric mis-division during meiosis II in the vast majority of cases. It has a prevalence of 1/140,000-180,000 live births and affects both genders equally. A 28-year-old woman was referred at 33+2 weeks gestation to rule out fetal congenital heart disease. Her prenatal ultrasonography showed intrauterine growth retardation, cardiomegaly, and imperforate anus. Doppler ultrasonographic finding showed fetal anemia. Tetrasomy 18p was confirmed by conventional karyotyping and fluorescence in situ hybridization. Because of its very low prevalence rate, only several cases of tetrasomy 18p has been reported worldwide and it has not yet been reported in Korea before. Therefore, we report a case of prenatally diagnosed tetrasomy 18p.
